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Target intelligence / Profile preview
Galactosidase Beta 1 (GLB1)
- Target
- GLB1
- Molecular classification
- Enzyme, Glycosyl hydrolase family 35
01
Overview
The GLB1 gene encodes beta-galactosidase, a lysosomal enzyme responsible for hydrolyzing terminal beta-galactose from GM1 ganglioside and keratan sulfate. Deficiency in beta-galactosidase leads to GM1 gangliosidosis or Morquio B syndrome, characterized by accumulation of these substrates and subsequent cellular toxicity. GLB1 also encodes elastin-binding protein, involved in elastin fiber assembly.
- Other names
- EBPELNR1MPS4Bgalactosidase beta 1[4]
02
Mechanism of action
Enzyme replacement therapy (potential)
03
Biological functions
Lysosomal degradation of GM1 gangliosidesLysosomal degradation of keratan sulfateElastin fiber assembly
04
Disease associations
GM1 GangliosidosisMorquio B Syndrome (MPS IVB)
05
Safety considerations
Potential for off-target effects in enzyme replacement therapyImmune response to enzyme replacement therapy
06
Biomarkers
β-galactosidase enzyme activity levelsGM1 ganglioside levelsKeratan sulfate levels
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